Beals syndrome

Also known as: Congenital contractural arachnodactyly

Contractures with arachnodactyly and crumpled ears.

Medical specialty: Genetics
Subspecialty: Genetics / Connective tissue disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: FBN2

Etiology & mechanism

FBN2 mutation.

Gene(s) involved (1)

FBN2

Symptoms & signs (5)

arachnodactylycontracturescrumpled earskyphoscoliosismuscle hypoplasia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.